Adult onset reducing body myopathy

Neuromuscul Disord. 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9.

Abstract

We report the case of a 28 year-old woman with left scapuloperoneal syndrome since the age of 24. The course was slowly progressive and diffuse weakness was observed 4 years later. Serum creatine kinase levels were moderately elevated (x3 normal value) and EMG showed mixed neurogenic and myogenic patterns. Muscle biopsy showed type I predominance and numerous reducing bodies in muscle fibers. Reducing bodies were strongly immunoreactive with antibodies to dystrophin, alpha-sarcoglycan, vimentin and ubiquitin. Desmin immunoreactivity was increased at the periphery of some reducing bodies but alphaB crystallin, alpha actinin, titin and nebulin were negative. Western blot analysis showed an increase in dystrophin, vimentin and desmin expression. Ultrastructurally, reducing bodies were composed of tubulofilamentous material, 17 nm in diameter, and immunoreactive with anti-Dys 2 antibody. Granulofilamentous material, immunoreactive with anti-desmin antibody was observed at the periphery of some reducing bodies. This report further highlights the proteinic composition of reducing bodies and shows that late onset reducing body myopathy may occur.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Biopsy
  • Desmin / metabolism
  • Dystrophin / metabolism
  • Female
  • Histocytochemistry
  • Humans
  • Immunoblotting
  • Immunohistochemistry
  • Microscopy, Electron
  • Microscopy, Immunoelectron
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Diseases / congenital*
  • Muscular Diseases / epidemiology*
  • Muscular Diseases / pathology
  • Vimentin / metabolism

Substances

  • Desmin
  • Dystrophin
  • Vimentin